We sought to determine the impact of implantable cardioverter-defibrillator(ICD) therapy in patients with familial arrhythmogenic right ventricular cardiomyopathy(ARVC). Arrhythmogenic right ventricular cardiomyopathy...We sought to determine the impact of implantable cardioverter-defibrillator(ICD) therapy in patients with familial arrhythmogenic right ventricular cardiomyopathy(ARVC). Arrhythmogenic right ventricular cardiomyopathy is a cause of sudden cardiac death, which may be prevented by ICD. We studied 11 families in which a 3p25 deoxyribonucleic acid(DNA) haplotype at locus ARVD5 segregated with disease and compared mortality in subjects who received an ICD with that in control subjects who were matched for age, gender, ARVC status, and family. Subjects(n=367) at 50%a priori risk of inheriting ARVC were classified as high risk(HR)(n=197), low risk(n=92), or unknown(n=78) on the basis of clinical events,DNA haplotyping, and/or pedigree position. Forty-eight HR subjects(30 males, [median age 32 years] and 18 females [median age 41 years]) were followed after ICD(secondary to ventricular tachycardia [VT] in 27%). Survival was compared with 58 HR control subjects who were alive at the same age to-the-day at which the ICD subject received the device. In the HR group, 50%of males were dead by 39 years and females by 71 years: relative risk of death was 5.1(95%confidence interval 3 to 8.5) for males. The five-year mortality rate after ICD in males was zero compared with 28%in control subjects(p=0.009). Within five years, the ICD fired for VT in 70%and for VT >240 beats/min in 30%, with no difference in discharge rate when analyzed by ICD indication. The unknown mutation at the ARVD5 locus causing ARVC results in high mortality. Risk stratification using genetic haplotyping and ICD therapy produced improved survival for males.展开更多
致心律失常性右室发育不全(arrhythmogenic right ventricular dysplasia,ARVD)多伴有反复发作的室性心律失常,部分病人可因室性心动过速(室速)的发作而猝死。近年来日益受到临床重视。国内仅有少数病例报告。现将我院经造影及/或活检...致心律失常性右室发育不全(arrhythmogenic right ventricular dysplasia,ARVD)多伴有反复发作的室性心律失常,部分病人可因室性心动过速(室速)的发作而猝死。近年来日益受到临床重视。国内仅有少数病例报告。现将我院经造影及/或活检证实的3例ARVD报道如下,并结合文献对其临床特征进行讨论。展开更多
致心律失常性右室发育不良(ARVD)临床上以右室起源的呈左束支阻滞型的持续性室速(VT)及室性期外收缩(VPc)等室性心律失常为主要症状,病理组织学上有右室游离壁的心肌减少,代之以脂肪组织浸润及纤维组织增生的一组临床病理症候群。1978年...致心律失常性右室发育不良(ARVD)临床上以右室起源的呈左束支阻滞型的持续性室速(VT)及室性期外收缩(VPc)等室性心律失常为主要症状,病理组织学上有右室游离壁的心肌减少,代之以脂肪组织浸润及纤维组织增生的一组临床病理症候群。1978年 Frank 及 Fortaine 根据病理学的异常,结合临床心脏超声、核医学、心导管检查,展开更多
Inherited cardiomyopathies are major causes of morbidity and mortality and include a group of cardiac disorders such as hypertrophic cardiomyopathy(HCM),dilated cardiomyopathy,arrhythmogenic right ventricular dysplasi...Inherited cardiomyopathies are major causes of morbidity and mortality and include a group of cardiac disorders such as hypertrophic cardiomyopathy(HCM),dilated cardiomyopathy,arrhythmogenic right ventricular dysplasia/cardiomyopathy(ARVD/C),left ventricular noncompaction(LVNC),and restrictive cardiomyopathy(RCM).These diseases have a substantial genetic component and predispose to sudden cardiac death.Since the first gene was identified as a disease-causing gene for HCM over two decades ago,more than eighty genes have been identified to be associated with inherited cardiomyopathies and genetic testing has become prevalent in making clinical diagnosis.With the advent of next-generation sequencing technology,genetic panel testing of inherited cardiomyopathies has become feasible and cost efficient.In this review,we summarize the individual cardiomyopathies with the emphasis on cardiomyopathy genetics and genetic testing.展开更多
文摘We sought to determine the impact of implantable cardioverter-defibrillator(ICD) therapy in patients with familial arrhythmogenic right ventricular cardiomyopathy(ARVC). Arrhythmogenic right ventricular cardiomyopathy is a cause of sudden cardiac death, which may be prevented by ICD. We studied 11 families in which a 3p25 deoxyribonucleic acid(DNA) haplotype at locus ARVD5 segregated with disease and compared mortality in subjects who received an ICD with that in control subjects who were matched for age, gender, ARVC status, and family. Subjects(n=367) at 50%a priori risk of inheriting ARVC were classified as high risk(HR)(n=197), low risk(n=92), or unknown(n=78) on the basis of clinical events,DNA haplotyping, and/or pedigree position. Forty-eight HR subjects(30 males, [median age 32 years] and 18 females [median age 41 years]) were followed after ICD(secondary to ventricular tachycardia [VT] in 27%). Survival was compared with 58 HR control subjects who were alive at the same age to-the-day at which the ICD subject received the device. In the HR group, 50%of males were dead by 39 years and females by 71 years: relative risk of death was 5.1(95%confidence interval 3 to 8.5) for males. The five-year mortality rate after ICD in males was zero compared with 28%in control subjects(p=0.009). Within five years, the ICD fired for VT in 70%and for VT >240 beats/min in 30%, with no difference in discharge rate when analyzed by ICD indication. The unknown mutation at the ARVD5 locus causing ARVC results in high mortality. Risk stratification using genetic haplotyping and ICD therapy produced improved survival for males.
文摘致心律失常性右室发育不全(arrhythmogenic right ventricular dysplasia,ARVD)多伴有反复发作的室性心律失常,部分病人可因室性心动过速(室速)的发作而猝死。近年来日益受到临床重视。国内仅有少数病例报告。现将我院经造影及/或活检证实的3例ARVD报道如下,并结合文献对其临床特征进行讨论。
文摘致心律失常性右室发育不良(ARVD)临床上以右室起源的呈左束支阻滞型的持续性室速(VT)及室性期外收缩(VPc)等室性心律失常为主要症状,病理组织学上有右室游离壁的心肌减少,代之以脂肪组织浸润及纤维组织增生的一组临床病理症候群。1978年 Frank 及 Fortaine 根据病理学的异常,结合临床心脏超声、核医学、心导管检查,
文摘Inherited cardiomyopathies are major causes of morbidity and mortality and include a group of cardiac disorders such as hypertrophic cardiomyopathy(HCM),dilated cardiomyopathy,arrhythmogenic right ventricular dysplasia/cardiomyopathy(ARVD/C),left ventricular noncompaction(LVNC),and restrictive cardiomyopathy(RCM).These diseases have a substantial genetic component and predispose to sudden cardiac death.Since the first gene was identified as a disease-causing gene for HCM over two decades ago,more than eighty genes have been identified to be associated with inherited cardiomyopathies and genetic testing has become prevalent in making clinical diagnosis.With the advent of next-generation sequencing technology,genetic panel testing of inherited cardiomyopathies has become feasible and cost efficient.In this review,we summarize the individual cardiomyopathies with the emphasis on cardiomyopathy genetics and genetic testing.